M5K (p.Met5Lys) variant of G6PC1 (P35575)
M5K (p.Met5Lys) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glycogen storage disease due to glucose-6-phosphatase deficiency type IA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
M5K (p.Met5Lys) variant details
- p.Met5Lys
- rs1250172816
- ClinGen CA399649708
- ClinVar RCV003057769
- Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- AlphaMissense 0.34
- MetaLR 0.67
- MetaSVM 0.47
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Likely pathogenic (in GSD1A)
- UniProt: Likely pathogenic (in GSD1A)
- Structural context available
- Cited in: Glycogen Storage Disease Type I. (PMID 20301489)
- Cited in: Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical… (PMID 25356975)